If you watch the latest teleserye af ABS-CBN entitled "Lorenzo's Time", you probabaly have heard about Progeria. It is the disease of the main character, Enzo, who had undergone an experimental procedure to hopefully 'cure' the said disease. As for me, I have learned about this disease in an article published in 'Health and Home' that featured a Filipina who had this disease when I was in highschool. The full article can be found HERE.
What is Progeria?
Progeria is a rare disease that causes rapid ageing process which occurs in 1 per 8 million live births. It is a genetic disease, meaning, a person already has it in his genes when he was born. It occurs as a new mutation which is better illustrated by the table below:
|Steps in normal cell||Steps in cell with progeria|
|The gene LMNA encodes a protein called prelamin A.||The gene LMNA encodes a protein called prelamin A.|
|Prelamin A has a farnesyl group attached to its end.||Prelamin A has a farnesyl group attached to its end.|
|Farnesyl group is removed from prelamin A.||Farnesyl group remains attached to prelamin A.|
|Normal form is called prelamin A.||Abnormal form of prelamin A is called progerin.|
|Prelamin A is not anchored to the nuclear rim.||Progerin is anchored to the nuclear rim.|
|Normal state of the nucleus.||Abnormally shaped nucleus.|
The said disease was first described by Jonathan Hutchinson (1886) and was later described independently by Hastings Gilford (1897) hence, the disease was later named Hutchinson-Gilford Progeria Syndrome (HGPS).
What are the Signs and Symptoms?
Progeria's earliest symptom is Failure to Thrive or poor physical growth and a localized schleroderma-like skin condition. When the child reaches 18-24 months, a distinctive appearance appears; small face and jaw with pinched nose. As you can see in the picture above, the children almost look the same. Symptoms get worse as the child ages. He may have wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, hair loss and cardiovascular problems. In the Philippines, only two cases of this condition were reported.
Diagnosis of this disease is based on signs and symptoms.
- Signs: things you can see such as appearance.
- Symptoms: what the patient feels such as body weakness.
Confirmatory test is genetic test for LMNA mutation.
As of now, no treatment has been discovered nor proven effective yet. The focus of treatment is prevention of complications. Most children with this condition only reach the age of 13 years. They die either of heart attack or stroke.